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  • Title: [Noonan's syndrome with an unusual combination of hypertrophic cardiomyopathy, congenital bicuspid aortic valve, coarctation of the aorta and hypoplastic aortic arch].
    Author: Petersen SE, Mohrs OK, Theile U, Pohlmann W, Voigtländer T.
    Journal: Z Kardiol; 2004 Apr; 93(4):310-6. PubMed ID: 15085376.
    Abstract:
    Noonan's syndrome is characterized by craniofacial anomalies, i. e. ptosis, webbing of the neck and a deep nuchal hairline, as well as skeletal deformities such as short stature, clinodactyly, pectus carinatum and funnel chest and other organ anomalies, mainly cardiac valve disease, less often testicular retention or kidney malformations. Noonan syndrome presents with aspects similar to Ullrich-Turner syndrome, but can be found in both male and female patients. In about one half of the patients with Noonan's syndrome cardiovascular anomalies occur, mostly anomalies of the right heart (mainly valvular pulmonary stenosis). Aortic stenosis and coarctation of the aorta are rarely seen. We report on a patient with four sequential potentially stenosing and stenosed parts of the proximal systemic circulation: hypertrophic cardiomyopathy, bicuspid aortic valve, coarctation of the aorta and a hypoplastic aortic arch as a part of Noonan's syndrome. This patient presents with a unique combination of anomalies, as he also shows a Madelung like deformity of the wrist.
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